Abstract

Objectives

To assess the health-related quality of life (HRQOL) of patients with mucopolysaccharidosis (MPS) and their caregivers and to quantify the disease-related costs from a societal perspective.

Methods

In the context of a multi-country study of rare diseases (BURQOL-RD project), a cross-sectional survey was performed among MPS patients in seven European countries. Data on demographic characteristics, health resource utilization, informal care, and loss of labor productivity were collected. The EQ-5D, Barthel index (BI), and Zarit burden interview (ZBI) questionnaires were used to assess patients’ and their informal caregivers’ quality of life, patients’ functional ability, and caregivers’ burden, respectively.

Results

Altogether, 120 patients (children 62 %, females 40 %) and 66 caregivers completed the questionnaire. Patients’ mean age was 16.5 years and median age at diagnosis was 3 years. Adult patients’ average EQ-5D and EQ VAS scores varied across countries from 0.13 to 0.43 and 30.0 to 62.2, respectively, mean BI was 46.7, and ZBI was 32.7. Mean informal care time was 51.3 h/week. The mean total annual cost per patient (reference year 2012) was €24,520 in Hungary, €25,993 in France, €84,921 in Italy, €94,384 in Spain, and €209,420 in Germany. Costs are also shown to differ between children and adults. Direct costs accounted for most of the costs in all five countries (80, 100, 99, 98, and 93 %, respectively).

Conclusions

MPS patients experience substantial loss of HRQOL and their families take a remarkable part in their care. Although utilization of health and social care resources varies significantly across countries, MPS incurs considerable societal costs in all the countries studied.

Compliance with ethical standards

Funding

Supported by the Social/Economic Burden and Health-Related Quality of Life in Patients with Rare Diseases in Europe Project, which received funding from the European Union within the framework of the Health Programme [Grant A101205]. The Executive Agency of the European Union is not responsible for any use that may be made of the information contained herein.